Observational study finds increased risk of copy number variations in fetuses with soft markers, suggesting further analysis is crucial.
The residual risk in fetuses with multiple soft markers and most isolated soft markers (absent or hypoplastic nasal bone, mild ventriculomegaly, thickened nuchal fold, echogenic bowel, short femur length, mild pyelectasis, and choroid plexus cysts) was higher than that in low-risk pregnancies. CNV analysis is recommended for such fetuses, regardless of whether NIPS has been performed previously.
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Liang et al. (2026) studied this question.
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